Canonical Allele Identifier: CA10576337

Gene: IDUA

Linked Data

• ClinVar Variation Id: 226412
• ClinVar RCV Id: RCV000211578 ; RCV003129812 ; RCV003591715
• dbSNP Id: rs875989946
• MyVariant Identifiers: chr4:g.995285T>C (hg19) ; chr4:g.1001497T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001497T>C , CM000666.2:g.1001497T>C	GRCh38
NC_000004.11:g.995285T>C , CM000666.1:g.995285T>C	GRCh37
NC_000004.10:g.985285T>C	NCBI36
NG_008103.1:g.19501T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.523T>C	ENSP00000247933.4:p.Trp175Arg
ENST00000514224.2:c.523T>C MANE Select	ENSP00000425081.2:p.Trp175Arg
ENST00000652070.1:n.579T>C
ENST00000247933.8:c.523T>C	ENSP00000247933.4:p.Trp175Arg
ENST00000502910.5:c.382T>C	ENSP00000422952.1:p.Trp128Arg
ENST00000504568.5:c.483T>C
ENST00000509948.5:c.316T>C	ENSP00000424227.1:p.Trp106Arg
ENST00000514192.5:c.340T>C	ENSP00000423685.1:p.Trp114Arg
ENST00000514224.1:c.127T>C	ENSP00000425081.1:p.Trp43Arg
ENST00000514698.5:n.423T>C
NM_000203.4:c.523T>C	NP_000194.2:p.Trp175Arg
NR_110313.1:n.611T>C
XM_006713882.2:c.127T>C	XP_006713945.1:p.Trp43Arg
XM_011513459.1:c.382T>C	XP_011511761.1:p.Trp128Arg
XM_011513460.1:c.382T>C	XP_011511762.1:p.Trp128Arg
XM_011513461.1:c.316T>C	XP_011511763.1:p.Trp106Arg
XM_011513462.1:c.235T>C	XP_011511764.1:p.Trp79Arg
XM_011513463.1:c.235T>C	XP_011511765.1:p.Trp79Arg
XR_924947.1:n.592T>C
NM_000203.5:c.523T>C MANE Select	NP_000194.2:p.Trp175Arg
NM_001363576.1:c.127T>C	NP_001350505.1:p.Trp43Arg
XM_011513461.2:c.316T>C	XP_011511763.1:p.Trp106Arg
XM_017008163.1:c.-466T>C	XP_016863652.1:n.-466T>C